Canonical Allele Identifier: CA134540970
Gene: BMP6 HGNC NCBI

Linked Data

dbSNP Id: rs927876039
gnomAD v3: 6-7849104-C-G
gnomAD v4: 6-7849104-C-G

Genomic Alleles

HGVS Genome Assembly
NC_000006.12:g.7849104C>G , CM000668.2:g.7849104C>G GRCh38
NC_000006.11:g.7849337C>G , CM000668.1:g.7849337C>G GRCh37
NC_000006.10:g.7794336C>G NCBI36

Transcript Alleles

HGVS Amino-acid change
ENST00000283147.7:c.857+3772C>G MANE Select ENSP00000283147.6:n.857+3772C>G
ENST00000283147.6:c.857+3772C>G ENSP00000283147.6:n.857+3772C>G
NM_001718.4:c.857+3772C>G NP_001709.1:n.857+3772C>G
NM_001718.5:c.857+3772C>G NP_001709.1:n.857+3772C>G
NM_001718.6:c.857+3772C>G MANE Select NP_001709.1:n.857+3772C>G